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Up to: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.
This condition has no sub-types.